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Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23074
Abstract: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones.
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Keywords:
exome sequencing;
identified compound;
whole exome;
sequencing identified ... See more keywords
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Published in 2022 at "Allergologia et immunopathologia"
DOI: 10.15586/aei.v50i6.529
Abstract: INTRODUCTION AND OBJECTIVES Omenn syndrome (OS) is a very rare type of severe combined immunodeficiencies manifested with erythroderma, eosinophilia, hepatosplenomegaly, lymph-adenopathy, and elevated level of serum IgE. OS is inherited with an autosomal recessive mode…
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Keywords:
omenn syndrome;
whole exome;
rag1;
sequencing identified ... See more keywords